Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur T. A. O'BRIEN |
Documents disponibles écrits par cet auteur (1)
Faire une suggestion Affiner la recherche
Course, prognosis and complications of childhood-onset myotonic dystrophy / T. A. O'BRIEN in Developmental Medicine & Child Neurology, 26-1 (February 1984)
[article]
Titre : Course, prognosis and complications of childhood-onset myotonic dystrophy Type de document : Texte imprimé et/ou numérique Auteurs : T. A. O'BRIEN, Auteur ; P. S. HARPER, Auteur Année de publication : 1984 Article en page(s) : p.62-67 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The outcome for 71 patients with childhood-onset myotonic dystrophy was examined. In addition to 18 patients with later onset, but presenting in childhood, and 46 with the congenital form, seven patients from congenital sibships who did not present in the neonatal period were found to have myotonic dystrophy of intermediate severity. The incidence of the congenital form in South Wales was six per 100,000. In all groups the mortality rate was low after the perinatal period. The prognosis for normal family life and ultimate gainful employment was poor. Testicular atrophy in congenitally affected males was evident at puberty, and there was a high incidence of gastro-intestinal problems. The contributions of deafness as a result of recurrent otitis, and of severe articulation defects, should be considered when assessing the degree of mental handicap. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573
in Developmental Medicine & Child Neurology > 26-1 (February 1984) . - p.62-67[article] Course, prognosis and complications of childhood-onset myotonic dystrophy [Texte imprimé et/ou numérique] / T. A. O'BRIEN, Auteur ; P. S. HARPER, Auteur . - 1984 . - p.62-67.
Langues : Anglais (eng)
in Developmental Medicine & Child Neurology > 26-1 (February 1984) . - p.62-67
Index. décimale : PER Périodiques Résumé : The outcome for 71 patients with childhood-onset myotonic dystrophy was examined. In addition to 18 patients with later onset, but presenting in childhood, and 46 with the congenital form, seven patients from congenital sibships who did not present in the neonatal period were found to have myotonic dystrophy of intermediate severity. The incidence of the congenital form in South Wales was six per 100,000. In all groups the mortality rate was low after the perinatal period. The prognosis for normal family life and ultimate gainful employment was poor. Testicular atrophy in congenitally affected males was evident at puberty, and there was a high incidence of gastro-intestinal problems. The contributions of deafness as a result of recurrent otitis, and of severe articulation defects, should be considered when assessing the degree of mental handicap. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573